MCID: MNT058
MIFTS: 20

Mental Retardation, X-Linked, Syndromic, Turner Type

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Turner Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Turner Type:

Name: Mental Retardation, X-Linked, Syndromic, Turner Type 57 75 29 6 73
Mental Retardation, X-Linked Syndromic, Turner Type 57 13 40
Mental Retardation and Macrocephaly Syndrome 57 75
Mrxst 57 75
X-Linked Intellectual Disability, Turner Type 59
Mrxs-Turner 75

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability, turner type
Inheritance: X-linked dominant;

HPO:

32
mental retardation, x-linked, syndromic, turner type:
Inheritance x-linked inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 300706
Orphanet 59 ORPHA85328
UMLS via Orphanet 74 C2678046
ICD10 via Orphanet 34 Q87.8
MedGen 42 C2678046
MeSH 44 D038901
UMLS 73 C2678046

Summaries for Mental Retardation, X-Linked, Syndromic, Turner Type

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked, syndromic, Turner type: A syndrome characterized by the association of mental retardation with macrocephaly and variable contractures.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Turner Type, also known as mental retardation, x-linked syndromic, turner type, is related to syndromic x-linked intellectual disability turner type. An important gene associated with Mental Retardation, X-Linked, Syndromic, Turner Type is HUWE1 (HECT, UBA And WWE Domain Containing 1, E3 Ubiquitin Protein Ligase). Related phenotypes are macroorchidism and macrocephaly

Description from OMIM: 300706

Related Diseases for Mental Retardation, X-Linked, Syndromic, Turner Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Turner Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability turner type 11.5

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Turner Type

Clinical features from OMIM:

300706

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Turner Type:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000053
2 macrocephaly 59 32 occasional (7.5%) Frequent (79-30%) HP:0000256
3 tapered finger 59 32 Occasional (29-5%) HP:0001182
4 intellectual disability 59 32 obligate (100%) Very frequent (99-80%) HP:0001249
5 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
6 limited elbow extension 59 32 Occasional (29-5%) HP:0001377
7 long face 59 Occasional (29-5%)
8 coarse facial features 59 Very frequent (99-80%)
9 pointed chin 59 Occasional (29-5%)
10 downslanted palpebral fissures 59 Occasional (29-5%)
11 hypotelorism 59 Occasional (29-5%)
12 delayed speech and language development 59 Very frequent (99-80%)
13 abnormality of the fingernails 59 Occasional (29-5%)
14 seizures 59 Occasional (29-5%)
15 intellectual disability, mild 59 Very frequent (99-80%)
16 hypertonia 59 Occasional (29-5%)
17 global developmental delay 59 Occasional (29-5%)
18 hyperreflexia 59 Occasional (29-5%)
19 obesity 59 Occasional (29-5%)
20 delayed gross motor development 59 Occasional (29-5%)
21 intellectual disability, moderate 59 Very frequent (99-80%)
22 ankle contracture 59 Occasional (29-5%)
23 long fingers 59 Occasional (29-5%)
24 intellectual disability, severe 59 Frequent (79-30%)
25 female infertility 59 Occasional (29-5%)
26 absent nares 59 Occasional (29-5%)

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Turner Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Turner Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Turner Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Turner Type:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, Turner Type 29 HUWE1

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Turner Type

Publications for Mental Retardation, X-Linked, Syndromic, Turner Type

Variations for Mental Retardation, X-Linked, Syndromic, Turner Type

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Turner Type:

75
# Symbol AA change Variation ID SNP ID
1 HUWE1 p.Arg2981His VAR_045670 rs121918526
2 HUWE1 p.Arg4013Trp VAR_045671 rs121918525
3 HUWE1 p.Arg4187Cys VAR_045672 rs121918527

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Turner Type:

6
(show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 HUWE1 NM_031407.6(HUWE1): c.12037C> T (p.Arg4013Trp) single nucleotide variant Pathogenic rs121918525 GRCh37 Chromosome X, 53564617: 53564617
2 HUWE1 NM_031407.6(HUWE1): c.12037C> T (p.Arg4013Trp) single nucleotide variant Pathogenic rs121918525 GRCh38 Chromosome X, 53537656: 53537656
3 HUWE1 NM_031407.6(HUWE1): c.8942G> A (p.Arg2981His) single nucleotide variant Likely pathogenic rs121918526 GRCh37 Chromosome X, 53578381: 53578381
4 HUWE1 NM_031407.6(HUWE1): c.8942G> A (p.Arg2981His) single nucleotide variant Likely pathogenic rs121918526 GRCh38 Chromosome X, 53551420: 53551420
5 HUWE1 NM_031407.6(HUWE1): c.12559C> T (p.Arg4187Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918527 GRCh37 Chromosome X, 53562435: 53562435
6 HUWE1 NM_031407.6(HUWE1): c.12559C> T (p.Arg4187Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918527 GRCh38 Chromosome X, 53535474: 53535474
7 HUWE1 NM_031407.6(HUWE1): c.4013C> T (p.Ala1338Val) single nucleotide variant Likely pathogenic rs863224879 GRCh38 Chromosome X, 53591082: 53591082
8 HUWE1 NM_031407.6(HUWE1): c.4013C> T (p.Ala1338Val) single nucleotide variant Likely pathogenic rs863224879 GRCh37 Chromosome X, 53618042: 53618042
9 HUWE1 NM_031407.6(HUWE1): c.11701C> T (p.Arg3901Ter) single nucleotide variant Uncertain significance rs1085307073 GRCh37 Chromosome X, 53565973: 53565973
10 HUWE1 NM_031407.6(HUWE1): c.11701C> T (p.Arg3901Ter) single nucleotide variant Uncertain significance rs1085307073 GRCh38 Chromosome X, 53539012: 53539012
11 HUWE1 NM_031407.6(HUWE1): c.9208C> T (p.Arg3070Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886041876 GRCh37 Chromosome X, 53578039: 53578039
12 HUWE1 NM_031407.6(HUWE1): c.9208C> T (p.Arg3070Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886041876 GRCh38 Chromosome X, 53551078: 53551078
13 HUWE1 NM_031407.6(HUWE1): c.3239G> A (p.Arg1080His) single nucleotide variant Likely pathogenic rs1057518704 GRCh37 Chromosome X, 53622288: 53622288
14 HUWE1 NM_031407.6(HUWE1): c.3239G> A (p.Arg1080His) single nucleotide variant Likely pathogenic rs1057518704 GRCh38 Chromosome X, 53595328: 53595328
15 HUWE1 NM_031407.6(HUWE1): c.12928G> C (p.Gly4310Arg) single nucleotide variant Pathogenic GRCh38 Chromosome X, 53534101: 53534101
16 HUWE1 NM_031407.6(HUWE1): c.12928G> C (p.Gly4310Arg) single nucleotide variant Pathogenic GRCh37 Chromosome X, 53561062: 53561062
17 HUWE1 NM_031407.6(HUWE1): c.12885G> C (p.Lys4295Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53561105: 53561105
18 HUWE1 NM_031407.6(HUWE1): c.12885G> C (p.Lys4295Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53534144: 53534144
19 HUWE1 NM_031407.6(HUWE1): c.12732G> C (p.Glu4244Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53561576: 53561576
20 HUWE1 NM_031407.6(HUWE1): c.12732G> C (p.Glu4244Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53534615: 53534615
21 HUWE1 NM_031407.6(HUWE1): c.12469C> G (p.Leu4157Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53563170: 53563170
22 HUWE1 NM_031407.6(HUWE1): c.12469C> G (p.Leu4157Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53536209: 53536209
23 HUWE1 NM_031407.6(HUWE1): c.12317A> G (p.Tyr4106Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53563449: 53563449
24 HUWE1 NM_031407.6(HUWE1): c.12317A> G (p.Tyr4106Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53536488: 53536488
25 HUWE1 NM_031407.6(HUWE1): c.12225C> G (p.Asn4075Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53536580: 53536580
26 HUWE1 NM_031407.6(HUWE1): c.12225C> G (p.Asn4075Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53563541: 53563541
27 HUWE1 NM_031407.6(HUWE1): c.12205A> T (p.Ile4069Phe) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53563561: 53563561
28 HUWE1 NM_031407.6(HUWE1): c.12205A> T (p.Ile4069Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53536600: 53536600
29 HUWE1 NM_031407.6(HUWE1): c.12067C> T (p.Arg4023Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53564587: 53564587
30 HUWE1 NM_031407.6(HUWE1): c.12067C> T (p.Arg4023Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53537626: 53537626
31 HUWE1 NM_031407.6(HUWE1): c.9581T> C (p.Phe3194Ser) single nucleotide variant Likely pathogenic rs782393002 GRCh37 Chromosome X, 53576374: 53576374
32 HUWE1 NM_031407.6(HUWE1): c.9581T> C (p.Phe3194Ser) single nucleotide variant Likely pathogenic rs782393002 GRCh38 Chromosome X, 53549413: 53549413
33 HUWE1 NM_031407.6(HUWE1): c.6267T> G (p.Ile2089Met) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53600755: 53600755
34 HUWE1 NM_031407.6(HUWE1): c.6267T> G (p.Ile2089Met) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53573795: 53573795
35 HUWE1 NM_031407.6(HUWE1): c.4942A> T (p.Ser1648Cys) single nucleotide variant Benign rs201226547 GRCh37 Chromosome X, 53612031: 53612031
36 HUWE1 NM_031407.6(HUWE1): c.4942A> T (p.Ser1648Cys) single nucleotide variant Benign rs201226547 GRCh38 Chromosome X, 53585071: 53585071
37 HUWE1 NM_031407.6(HUWE1): c.3982A> G (p.Met1328Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53591113: 53591113
38 HUWE1 NM_031407.6(HUWE1): c.3982A> G (p.Met1328Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53618073: 53618073
39 HUWE1 NM_031407.6(HUWE1): c.2007T> G (p.His669Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53642747: 53642747
40 HUWE1 NM_031407.6(HUWE1): c.2007T> G (p.His669Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53615786: 53615786
41 HUWE1 NM_031407.6(HUWE1): c.1978G> A (p.Gly660Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53642776: 53642776
42 HUWE1 NM_031407.6(HUWE1): c.1978G> A (p.Gly660Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53615815: 53615815
43 HUWE1 NM_031407.6(HUWE1): c.567+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome X, 53634235: 53634235
44 HUWE1 NM_031407.6(HUWE1): c.567+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome X, 53661187: 53661187
45 HUWE1 NM_031407.6(HUWE1): c.344C> T (p.Ser115Phe) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53674318: 53674318
46 HUWE1 NM_031407.6(HUWE1): c.344C> T (p.Ser115Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53647375: 53647375
47 HUWE1 NM_031407.6(HUWE1): c.329G> A (p.Arg110Gln) single nucleotide variant Pathogenic GRCh37 Chromosome X, 53674333: 53674333
48 HUWE1 NM_031407.6(HUWE1): c.329G> A (p.Arg110Gln) single nucleotide variant Pathogenic GRCh38 Chromosome X, 53647390: 53647390

Expression for Mental Retardation, X-Linked, Syndromic, Turner Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Turner Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Turner Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Turner Type

Sources for Mental Retardation, X-Linked, Syndromic, Turner Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....